DisGeNET - a database of gene-disease associations

rs397514737, GABRG2

N. diseases: 4

Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

CUI:	C1858674
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

0.800

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

CUI:	C1858674
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

0.800

GeneticVariation

UNIPROT

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

11326274

2001

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

CUI:	C1858674
Disease:	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3

0.800

CausalMutation

CLINVAR